ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495931
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393376
ClinVar RCV Id:
RCV000445456
RCV000667911
RCV003168711
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.His2754Asn
CA1714432
NM_015120.4:c.8260C>A