ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828766537
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450189
ClinVar RCV Id:
RCV000523193
RCV001242906
RCV002438254
RCV001328364
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Asn3752Ser
CA1715145
NM_001378454.1:c.11255A>G