Canonical Allele Identifier: PA658811004
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 497520
ClinVar RCV Id: RCV000593505 RCV001236809 RCV001139299 RCV004530660
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ser960Leu
CA10073073
NM_001849.4:c.2879C>T