ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495738
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240993
ClinVar RCV Id:
RCV000231998
RCV000734011
RCV002450702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Lys1103Thr
CA1713500
NM_015120.4:c.3308A>C