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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2256670490
Gene: ASIC2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.33643381_33643384delinsACTT , CM000679.2:g.33643381_33643384delinsACTT
GRCh38
NC_000017.10:g.31970400_31970403delinsACTT , CM000679.1:g.31970400_31970403delinsACTT
GRCh37
NC_000017.9:g.28994513_28994516delinsACTT
NCBI36
NG_029763.1:g.518423_518426delinsAAGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000359872.6:c.555+512594_555+512597delinsAAGT
ENSP00000352934.6:n.555+512594_555+512597delinsAAGT
NM_001094.4:c.555+512594_555+512597delinsAAGT
NP_001085.2:n.555+512594_555+512597delinsAAGT
NM_001094.5:c.555+512594_555+512597delinsAAGT
NP_001085.2:n.555+512594_555+512597delinsAAGT
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