ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA099699
Gene: MYO7A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43264
ClinVar RCV Id:
RCV000036169
RCV000434773
RCV000666360
RCV001826551
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000251.3:p.Thr165Met
CA278676
NM_000260.4:c.494C>T