ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495911
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
383775
ClinVar RCV Id:
RCV000431981
RCV000860050
RCV002411337
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Asp2674His
CA1714389
NM_015120.4:c.8020G>C