Canonical Allele Identifier: PA2830087654
Gene: BSCL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 305177
ClinVar RCV Id: RCV000301053 RCV000401336 RCV000431177 RCV000518650 RCV001083807 RCV001174402 RCV003940156 RCV002365351
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_116056.3:p.Ala218Val
CA6053437
NM_032667.6:c.653C>T