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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:
CA2470620959
Gene: ANOS2P
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.13787184_13787186delinsTAA , CM000686.2:g.13787184_13787186delinsTAA
GRCh38
NC_000024.9:g.15899064_15899066delinsTAA , CM000686.1:g.15899064_15899066delinsTAA
GRCh37
NC_000024.8:g.14408458_14408460delinsTAA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000652544.1:n.684+32395_684+32397delinsTAA
ENST00000430079.5:n.430-3735_430-3733delinsTAA
ENST00000460561.1:n.213-3735_213-3733delinsTAA
ENST00000472227.5:n.351-3735_351-3733delinsTAA
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