ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645496017
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391899
ClinVar RCV Id:
RCV000436491
RCV000464330
RCV002348248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg4003Trp
CA1715400
NM_015120.4:c.12007C>T