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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:
CA2668921125
Gene: NMRAL2P
HGNC
NCBI
Linked Data
gnomAD v4:
3-185968793-TA-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.185968795del , CM000665.2:g.185968795del
GRCh38
NC_000003.11:g.185686584del , CM000665.1:g.185686584del
GRCh37
NC_000003.10:g.187169278del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000306399.3:n.270+87del
ENST00000416764.5:n.349+78del
ENST00000422108.5:n.288+146del
ENST00000423298.5:n.137-2820del
ENST00000436375.5:n.342+87del
ENST00000445507.1:n.279+146del
NR_033752.2:n.349+78del
NR_151491.1:n.137-2820del
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