Allele Registry

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.

Canonical Allele Identifier: PA104568

Gene: ERCC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 16791

ClinVar RCV Id: RCV000018282

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000391.1:p.Leu485Pro	CA257628 NM_000400.4:c.1454T>C