ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496002
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
390504
ClinVar RCV Id:
RCV000434442
RCV000548287
RCV002451038
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3805Thr
CA1715186
NM_015120.4:c.11414G>C