Canonical Allele Identifier: PA2829061633
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 246509
ClinVar RCV Id: RCV000235352 RCV000543721 RCV002418047 RCV002479947 RCV003930012
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001372957.1:p.Cys100Phe
CA6053624
NM_001386028.1:c.299G>T