ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658811329
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499776
ClinVar RCV Id:
RCV000595220
RCV000794425
RCV001175497
RCV002438538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Ile2788Val
CA1714456
NM_015120.4:c.8362A>G