ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA247740
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198876
ClinVar RCV Id:
RCV002408782
RCV000180334
RCV000445510
RCV000825702
RCV001086118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Gly614Asp
CA247738
NM_015120.4:c.1841G>A