Canonical Allele Identifier: PA254376
Gene: ACVRL1 HGNC NCBI
ClinVar RCV:
RCV000008731
ClinVar Variation:
8247
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Gly48_Ala49delinsGluPro
CA254375
NM_000020.3:c.143_147delinsAGCCT