ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645495686
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403950
ClinVar RCV Id:
RCV000476920
RCV000732324
RCV001172510
RCV001358710
RCV002393077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Leu538Val
CA1713199
NM_015120.4:c.1612C>G