ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645495960
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403927
ClinVar RCV Id:
RCV000520369
RCV001082321
RCV001269158
RCV002374738
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3239Cys
CA1714745
NM_015120.4:c.9715C>T